Article
DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome.
Journal of medical genetics - 1 Apr 2011
Slade Ingrid, Bacchelli Chiara, Davies Helen, Murray Anne, Abbaszadeh Fatemeh, Hanks Sandra, Barfoot Rita, Burke Amos, Chisholm Julia, Hewitt Martin, Jenkinson Helen, King Derek, Morland Bruce, Pizer Barry, Prescott Katrina, Saggar Anand, Side Lucy, Traunecker Heidi, Vaidya Sucheta, Ward Paul, Futreal P Andrew, Vujanic Gordan, Nicholson Andrew G, Sebire Neil, Turnbull Clare, Priest John R, Pritchard-Jones Kathryn, Houlston Richard, Stiller Charles, Stratton Michael R, Douglas Jenny, Rahman Nazneen
Abstract excerpt
BACKGROUND: Constitutional DICER1 mutations were recently reported to cause familial pleuropulmonary blastoma (PPB). AIM: To investigate the contribution and phenotypic spectrum of constitutional and somatic DICER1 mutations to cancer. METHODS AND RESULTS: The authors sequenced DICER1 in constitutional DNA from 823 unrelated patients with a variety of tumours and in 781 cancer cell lines. Constitutional DICER1...
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